Everolimus-induced near-resolution of giant cardiac rhabdomyomas and large renal angiomyolipoma in a newborn with tuberous sclerosis complex

Abstract

We report a case of a newborn, affected by tuberous sclerosis complex, with a prenatally diagnosed giant cardiac rhabdomyoma associated with a large renal angiomyolipoma presenting as a duct-depending lesion not treatable by surgery. After receiving everolimus, a mammalian target of rapamycin inhibitor, we observed a rapid, significant, and durable reduction of both lesions without remarkable side effects.

Giant left ventricular rhabdomyoma treated successfully with everolimus: case report and review of literature

“…10 To date, several cases of cardiac rhabdomyomas treated successfully with everolimus have been described (Table 1). 1,2,4,6,7,9,[11][12][13][14][15][16][17][18][19][20][21] However, the United States Food and Drug Administration has not approved the treatment of cardiac rhabdomyomas with mammalian target of rapamycin inhibitors. 1 We report a case of a giant rhabdomyoma of the left ventricle, causing severe left ventricular dysfunction and leading to a ductdependent systemic circulation.…”

Clinical and genetic description of patients with prenatally identified cardiac tumors

“…Ninety percent of cardiac tumors involute at birth, and of the remaining cases, 33% to 50% involute in the first 2 to 4 years of life. Most of them do not compromise cardiac function; however, they can sometimes obstruct flow, alter valvular function and, in 16% to 47% of cases, cause cardiac arrhythmias, depending on their number, location and size . In 2011, treatment with mTOR pathway inhibitors (everolimus and sirolimus) was proposed for patients with cortical tubers, subependymal giant cell astrocytoma (SEGA), or facial angiofibromas, with good results.…”

“…In 2011, treatment with mTOR pathway inhibitors (everolimus and sirolimus) was proposed for patients with cortical tubers, subependymal giant cell astrocytoma (SEGA), or facial angiofibromas, with good results. Currently, these drugs are also proposed for the reduction of giant cardiac rhabdomyomas when these generate hemodynamic compromise or produce dysrhythmias refractory to medical treatment . Recently, a case of oral treatment with sirolimus was reported in a pregnant patient at 30 weeks' gestation with a progressively obstructive fetal cardiac rhabdomyoma with adequate response and no apparent complications at follow‐up …”

Literature review of international mammalian target of rapamycin inhibitor use in the non-surgical management of haemodynamically significant cardiac rhabdomyomas

“…Having examined the series of published cases using mammalian target of rapamycin inhibitors for haemodynamically significant rhabdomyomas, these agents are clearly efficacious with all cases showing reduction in size or full resolution of cardiac rhabdomyoma. [10][11][12][13][14][15][16][17][18][19][20][21][22][23][26][27][28][29][30]32,33 However, these drugs are not without risk, and standardised dosing and treatment duration regimens remain to be defined. From the published case reports to date, there is no general consensus on dose of mammalian target of rapamycin inhibitors (variations from 0.1 mg OD to 0.25 mg BD twice per week to 0.5 mg BD twice per week).…”